Canonical Allele Identifier: CA9385663

Gene: KMT2B

Linked Data

• ClinVar Variation Id: 2725700
• ClinVar RCV Id: RCV003554688
• dbSNP Id: rs747697534
• ExAC: 19:36223761 G / A
• gnomAD v2: 19-36223761-G-A
• gnomAD v3: 19-35732860-G-A
• gnomAD v4: 19-35732860-G-A
• MyVariant Identifiers: chr19:g.36223761G>A (hg19) ; chr19:g.35732860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732860G>A , CM000681.2:g.35732860G>A	GRCh38
NC_000019.9:g.36223761G>A , CM000681.1:g.36223761G>A	GRCh37
NC_000019.8:g.40915601G>A	NCBI36
NG_052906.1:g.19842G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000592092.2:n.617G>A
ENST00000673918.2:c.6245G>A	ENSP00000501283.1:p.Arg2082Gln
ENST00000674114.2:c.3852G>A	ENSP00000501039.2:n.3852G>A
ENST00000684977.1:c.1529G>A	ENSP00000509384.1:p.Arg510Gln
ENST00000689544.1:n.1464G>A
ENST00000691421.1:c.1532G>A	ENSP00000508674.1:p.Arg511Gln
ENST00000691855.1:c.5853G>A
ENST00000692961.1:c.6311G>A	ENSP00000509289.1:p.Arg2104Gln
ENST00000693677.1:c.704+531G>A	ENSP00000509779.1:n.704+531G>A
ENST00000420124.4:c.6311G>A MANE Select	ENSP00000398837.2:p.Arg2104Gln
ENST00000673918.1:c.6245G>A	ENSP00000501283.1:p.Arg2082Gln
ENST00000674114.1:c.3633G>A
ENST00000420124.2:c.6311G>A	ENSP00000398837.1:p.Arg2104Gln
NM_014727.2:c.6311G>A	NP_055542.1:p.Arg2104Gln
XM_011527561.1:c.6245G>A	XP_011525863.1:p.Arg2082Gln
XM_011527562.1:c.6311G>A	XP_011525864.1:p.Arg2104Gln
XM_011527563.1:c.6035G>A	XP_011525865.1:p.Arg2012Gln
XM_011527561.2:c.5747G>A	XP_011525863.2:p.Arg1916Gln
XM_011527562.2:c.6311G>A	XP_011525864.1:p.Arg2104Gln
XM_017027544.1:c.6311G>A	XP_016883033.1:p.Arg2104Gln
XM_017027545.1:c.5747G>A	XP_016883034.1:p.Arg1916Gln
XM_017027546.1:c.3275G>A	XP_016883035.1:p.Arg1092Gln
NM_014727.3:c.6311G>A MANE Select	NP_055542.1:p.Arg2104Gln